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Journal of Inherited Metabolic Disease|September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuriaKarina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Emerging Infectious Diseases|October 25, 2021
Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 in Households with Children, Southwest Germany, May-August 2020Maximilian Stich, Roland Elling, Hanna Renk, et al.
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 PatientsBianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.
Journal of Pediatric Gastroenterology and Nutrition|July 7, 2025
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in GermanyDominic Lenz, Muhammad Abdulaziz, Bianca Peters, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
JAMA Pediatrics|January 22, 2021
Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest GermanyBurkhard Tönshoff, Barbara Müller, Roland Elling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
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